rs705379

This variant is located in the PON1 gene.

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GWAS Catalog Trait Associations (66)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

HDL particle size

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 7.0e-64
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-16
N 136,016
Large GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 1.0e-15
N 115,082
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.03
p 1.0e-11
N 88,329
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.31
p 4.0e-56
N 5,368
Large GWAS
European

level of cysteine-rich protein 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 3.0e-54
N 47,745
Large GWAS
European

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 1.0e-52
N 450,015
Large GWAS
multi-ancestry

phospholipids in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 4.0e-52
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 4.0e-13
N 136,016
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.03
p 2.0e-11
N 88,329
Large GWAS
European

free cholesterol in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 2.0e-51
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.03
p 5.0e-10
N 88,329
Large GWAS
European

cholesterol to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 7.0e-51
N 450,015
Large GWAS
multi-ancestry

phospholipids in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 1.0e-50
N 450,015
Large GWAS
multi-ancestry

total lipids in large HDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 1.0e-49
N 450,015
Large GWAS
multi-ancestry

total lipids in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 5.0e-47
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-13
N 136,016
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.03
p 2.0e-11
N 88,329
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Enzyme activity finding; not provided

View on ClinVar →
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Research that mentions this SNP (1)

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Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population
AssociationN=1,915Renato Assis Machado et al.(2019)· Environmental and Molecular Mutagenesis

Two-stage genetic study examining 28 SNPs in oxidative stress genes (SOD1, SOD2, SOD3, PON1, PON2, PON3) in relation to nonsyndromic cleft lip with or without cleft palate (NSCL/CP) in Brazilian population. Initial transmission disequilibrium test (TDT) on 325 trios identified gene-gene interactions, which were validated in case-control analysis (722 cases, 866 controls). PON1 rs2237583 C allele showed protective effect (OR=0.79, 95% CI 0.67-0.93, p=0.005), and multiple significant PON1-PON2-PON3 gene-gene interactions were detected after Bonferroni correction.

Traits studied:nonsyndromic cleft lip and palatenonsyndromic cleft lip onlynonsyndromic cleft lip with or without cleft palate
PubMedDOIMetascience Observatory

About PON1

This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]

View all PON1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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